ClinVar Miner

List of variants in gene KANSL1 reported as pathogenic

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NC_000017.11:g.(?_46031456)_(46082562_?)del
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter) rs1555575197
NM_015443.4(KANSL1):c.1039_1057del (p.Thr347fs) rs2046260021
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1110del (p.Phe370_Leu371insTer) rs2147733170
NM_015443.4(KANSL1):c.1220C>G (p.Ser407Ter)
NM_015443.4(KANSL1):c.1269del (p.Glu424fs) rs1555574888
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs) rs2046246646
NM_015443.4(KANSL1):c.1328dup (p.Ala444fs) rs2146947627
NM_015443.4(KANSL1):c.1353G>A (p.Trp451Ter) rs2041984041
NM_015443.4(KANSL1):c.1384C>T (p.Arg462Ter)
NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys) rs1018963624
NM_015443.4(KANSL1):c.1485_1488del (p.Leu496fs)
NM_015443.4(KANSL1):c.1532del (p.Lys510_Leu511insTer) rs886039733
NM_015443.4(KANSL1):c.1579_1582del (p.Ile527fs) rs1057518182
NM_015443.4(KANSL1):c.1652+1G>A rs281865470
NM_015443.4(KANSL1):c.1657_1658insTTGTAT (p.Gln553delinsLeuValTer) rs2146659025
NM_015443.4(KANSL1):c.1725dup (p.Arg576fs) rs2078389049
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter) rs2146658002
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln)
NM_015443.4(KANSL1):c.1802dup (p.Arg602fs)
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.1849-26_1871del rs2146486142
NM_015443.4(KANSL1):c.1849-4661_1895del
NM_015443.4(KANSL1):c.1944dup (p.His649fs)
NM_015443.4(KANSL1):c.2020+1G>A
NM_015443.4(KANSL1):c.2058del (p.Lys686fs) rs1064793433
NM_015443.4(KANSL1):c.2104A>T (p.Lys702Ter)
NM_015443.4(KANSL1):c.2105del (p.Lys702fs) rs2146370110
NM_015443.4(KANSL1):c.2109dup (p.Ser704fs)
NM_015443.4(KANSL1):c.2130del (p.Met711fs)
NM_015443.4(KANSL1):c.2132dup (p.Met711fs) rs1555734136
NM_015443.4(KANSL1):c.2203+1G>A rs796052595
NM_015443.4(KANSL1):c.2311_2323delinsATG (p.Leu771fs) rs1064796433
NM_015443.4(KANSL1):c.2342del (p.Pro781fs)
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) rs2077221203
NM_015443.4(KANSL1):c.2519C>A (p.Ser840Ter)
NM_015443.4(KANSL1):c.2591del (p.Asn864fs) rs2077088526
NM_015443.4(KANSL1):c.2664del (p.Ser889fs)
NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs) rs2077066093
NM_015443.4(KANSL1):c.2772_2776del (p.Cys924_Glu926delinsTer)
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs) rs281865471
NM_015443.4(KANSL1):c.2821del (p.Gln941fs) rs2146314756
NM_015443.4(KANSL1):c.2830_2837+13del rs1064796289
NM_015443.4(KANSL1):c.2831dup (p.Ser945fs) rs2146314563
NM_015443.4(KANSL1):c.2837+2T>C rs975947508
NM_015443.4(KANSL1):c.2902dup (p.Gln968fs) rs1374665357
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs) rs1568366050
NM_015443.4(KANSL1):c.2956_2957del (p.Gly986fs) rs1598441446
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) rs779686052
NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs) rs2077025601
NM_015443.4(KANSL1):c.449del (p.Pro150fs) rs1567764119
NM_015443.4(KANSL1):c.501_511dup (p.Asp171fs) rs2147746137
NM_015443.4(KANSL1):c.536_537dup (p.Lys180fs) rs1064794038
NM_015443.4(KANSL1):c.540del (p.Lys180fs) rs1597874008
NM_015443.4(KANSL1):c.572del (p.Gly191fs) rs1555575816
NM_015443.4(KANSL1):c.608_611dup (p.Met205fs) rs1304078301
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
NM_015443.4(KANSL1):c.699dup (p.Val234fs) rs2147741933
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter) rs142096969
NM_015443.4(KANSL1):c.774_775insT (p.Gly259fs) rs2046278091
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_015443.4(KANSL1):c.788del (p.Leu263fs) rs2147739739
NM_015443.4(KANSL1):c.808del (p.Leu270fs) rs1555575489
NM_015443.4(KANSL1):c.878del (p.Asp293fs) rs1555575405
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter) rs1189248208
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015443.4:c.1431+1_1432-1del

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